Fig. 2 | Genetics in Medicine

Fig. 2

From: Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

Fig. 2

Genome-wide homozygosity mapping in family C using exome sequencing data. (a) Stretches of homozygosity were mapped on jointly called exome sequencing (ES) data from five individuals (two affected, two unaffected siblings, and their unaffected mother) using HomozygosityMapper software. Black vertical lines, regions with <80% homozygosity exclusive to cases; red vertical lines, regions with >80% homozygosity exclusive to cases. The blue arrow indicates a stretch of homozygosity on chr2 harboring the ZNF142 variant. (b) Enlarged view of chr2 indicating the homozygous genomic stretches shared between affected individuals. The blue dotted rectangle outlines the 10.6-Mb region of interest with a 100% homozygosity score. (c) Graphical representation of the homozygous region on chr2 generated with GeneDistiller. ZNF142 is localized to the homozygous region shared between cases and differs from healthy siblings and their unaffected mother. Black rectangle and flanking hg19 coordinates (red, top) indicate the region containing ZNF142. Blue, heterozygous variant calls; red, homozygous regions with lighter red to darker red reflecting shorter to longer homozygous stretches, respectively. (d) Ideogram of chr2 generated by Genome Data Viewer showing the position of ZNF142 (blue rectangle) at 2q35 (hg19: chr2: 219502640-219524355).

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